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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 155 (1996), S. S125 
    ISSN: 1432-1076
    Keywords: Key words Phenylketonuria ; Children ; Diet ; Protein
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The methods for the determination of protein requirements are reviewed and the difficulties in achieving the recommendations of the dietary management of phenylketonuria proposed by a Medical Research Council Working Party on Phenylketonuria using currently available low phenylalanine (Phe) protein substitutes and low protein foods are examined. These recommendations are that all infants whose blood Phe concentrations exceed 600 μmol/l in the presence of a normal or low plasma tyrosine and an otherwise normal plasma amino acid profile while receiving a normal protein intake (2–3 g/kg/day), should start a low Phe diet immediately. Infants whose blood Phe concentrations remain persistently between 400 and 600 μmol/l for more than a few days should also start treatment. The diet should contain a protein substitute which is Phe free (or at least very low in Phe) and otherwise nutritionally complete with a composition sufficient to provide 100–120 mg/kg per day of tyrosine and a total amino acid intake of at least 3 g/kg per day in children under 2 years of age. In children over 2 years the intake of amino acids should be maintained at a level of 2 g/kg per day. The protein substitute should be spread as evenly as possible through the 24 h. Blood Phe concentrations should be maintained between 120 and 360 μmol/l. In children aged over 10 years it is suggested that the protein substitute should supply the protein reference nutrient intake + 50%. An upper blood Phe limit of 480 μmol/l rather than 360 μmol/l may be acceptable in school age children. Adults and adolescents should continue treatment with the aim to maintain blood Phe concentrations no higher than 700 μmol/l. During the period before conception and during pregnancy women should aim to have plasma Phe concentrations between 60–250 μmol/l.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 0009-8981
    Keywords: Acylcarnitines ; Gas chromatography ; Medium chain acyl CoA dehydrogenase deficiency
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    BJOG 93 (1986), S. 0 
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary. Adapting Sir Dugald Bairďs concept of primary obstetric causes of perinatal mortality, a revised clinico-pathological classification has been evolved to take account of new knowledge and developments, and to direct attention to potentially avoidable deaths and to where intensified efforts and investigation are needed. Categories highlighting the importance of intrauterine growth retardation, unexplained intrauterine death and spontaneous premature labour have been introduced, intrapartum hypoxia is separated from birth trauma, and infection again has its own category. Regular perinatal audit at one obstetric hospital, since 1979, has shown that the new system provides a workable and useful means for classifying not only perinatal deaths, but also late abortions, late neonatal deaths and perinatally related infant deaths. The rate of total perinatally related wastage, defined in this way, was almost twice that for perinatal mortality (22–8 compared with 11.9 per 1000 births). The former is advocated as a more realistic index for the audit of perinatal care. The revised and extended system is put forward as a contribution to the current debate on classifying and reporting such wastage, in the hope that it may be tested as a model for regional as well as hospital surveys.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: An oral load of L-phenylalanine (150 mg. per kg. body weight) was given to five women three hours before delivery by hysterotomy of their 16–18 week conceptuses. A sixth woman was delivered of a 16-week conceptus after two hours continuous intravenous infusion of L-phenylalanine (75 mg. per kg. body weight per hour).Concentrations of free amino acids were measured in maternal venous plasma, umbilical arterial plasma, fetal urine, amniotic fluid and cerebrospinal fluid. Free amino acid concentrations were also measured in maternal and umbilical vein plasma and amniotic fluid of a treated phenylketonuric mother delivered spontaneously at 36 weeks gestation of a non-phenylketonuric infant.Increased concentrations of phenylalanine were measured in all maternal plasma samples obtained one, two and three hours after ingestion of L-phenylalanine and during intravenous infusion. There were correspondingly high concentrations of phenylalanine in fetal plasma, fetal urine, amniotic fluid and fetal cerebrospinal fluid at delivery.Tyrosine concentrations were also increased in maternal and fetal plasma, fetal urine, amniotic fluid and fetal cerebrospinal fluid of mothers given phenylalanine. Although maternal plasma, fetal plasma and amniotic fluid from the phenylketonuric mother contained increased concentrations of phenylalanine, there was no increase in the tyrosine concentrations in these fluids.The mean umbilical artery plasma-maternal vein plasma ratios for phenylalanine was 2·35 in normal 15- to 20-week pregnancies, 2·26 three hours after oral L-phenylalanine, 1·29 after intravenous infusion of L-phenylalanine and 1·45 in the phenylketonuric pregnancy. Corresponding ratios for tyrosine were 2·52, 2·30, 2·15 and 2·90. In the acute tolerance studies the mean fetal plasma phenylalanine-tyrosine ratio was 2·47 and in the phenylketonuric fetus 8·16.There were reductions in maternal plasma concentrations of most amino acids three hours after the oral phenylalanine and these reductions were significant for methionine, lysine, histidine and arginine. These changes were not reflected in the amniotic fluid but there were significant reductions in fetal plasma threonine and arginine and in fetal urine threonine and taurine. Methionine concentrations were increased in the maternal plasma, fetal plasma and amniotic fluid of the treated phenylketonuric mother.The human placenta does not “protect” the fetus from increased maternal plasma concentrations of phenylalanine in the normal or phenylketonuric mother.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Plasma amino acid and total protein concentrations in the mother at delivery, in the newborn infant and in the infant at the seventh day were compared for 12 small-for-dates infants born to mothers with severe pre-eclampsia and low urinary oestriol excretion, 9 large-for-dates infants born to mothers with diabetes mellitus and normal oestriol excretion, and 26 appropriate-weight-for-dates control infants born after normal pregnancy. The latter included vaginal deliveries at and before term and deliveries by Caesarean section at term.Severe pre-eclampsia was associated with a reduced mean maternal plasma total protein concentration and a generalized increase in plasma amino acid concentrations. Plasma total protein values in the small-for-dates infants at birth and at the seventh day were not significantly different from values in control infants of similar gestation period, but amino acid values at birth were usually higher than those in control infants.In diabetic mothers and their infants there were increased concentrations of aspartic acid and α-amino-n-butyric acid. The concentrations of the remaining amino acids and the total plasma protein concentrations did not differ from the normal control values either in mother or infant (birth and seventh day). Ten of the twenty amino acids examined in diabetic mothers and their infants showed significant positive correlations between maternal and umbilical venous values. This degree of correlation was not found in normal or pre-eclamptic pregnancy. Due to failure of the infant to reflect fully the higher maternal levels in toxaemia, the umbilical venous/maternal venous plasma amino acid ratios for total mean plasma amino acid concentrations and particularly for the branched-chain amino acids valine, leucine and isoleucine were reduced.The umbilical venous plasma/maternal venous plasma ratios for normal, toxaemic and diabetic pregnancy were 1.6: 1, 1.4: 1 and 1.6: 1 respectively.In small-for-dates infants there was a negative correlation between amino acid concentration at birth and both birthweight and umbilical venous plasma protein concentration, suggesting a possible endogenous mobilization of amino acids in such infants.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    BJOG 99 (1992), S. 0 
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    BJOG 93 (1986), S. 0 
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary. Adapting Sir Dugald Bairďs concept of primary obstetric causes of perinatal mortality, a revised clinico-pathological classification has been evolved to take account of new knowledge and developments, and to direct attention to potentially avoidable deaths and to where intensified efforts and investigation are needed. Categories highlighting the importance of intrauterine growth retardation, unexplained intrauterine death and spontaneous premature labour have been introduced, intrapartum hypoxia is separated from birth trauma, and infection again has its own category. Regular perinatal audit at one obstetric hospital, since 1979, has shown that the new system provides a workable and useful means for classifying not only perinatal deaths, but also late abortions, late neonatal deaths and perinatally related infant deaths. The rate of total perinatally related wastage, defined in this way, was almost twice that for perinatal mortality (22-8 compared with 11·9 per 1000 births). The former is advocated as a more realistic index for the audit of perinatal care. The revised and extended system is put forward as a contribution to the current debate on classifying and reporting such wastage, in the hope that it may be tested as a model for regional as well as hospital surveys.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    BJOG 81 (1974), S. 0 
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: A successful pregnancy following kidney transplantation ended in the infant being delivered by Caesarean section at 32 weeks, after the premature onset of labour. The child was normal and the mother's renal function returned to its pre-pregnancy state.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    BJOG 80 (1973), S. 0 
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Patterns of free amino acid concentrations in maternal venous plasma, umbilical arterial plasma, fetal urine, amniotic fluid and neonatal urine from eight infants delivered at term by elective Caesarean section before the onset of labour were determined. Concentrations of amino acids were in general greater in fetal plasma than in maternal plasma, amniotic fluid, fetal urine and neonatal urine. There was little correlation between amniotic fluid amino acid composition and the composition of fetal urine, fetal plasma or maternal plasma. Urine excreted during the first 24 hours after birth had a higher osmolality and greater amino acid concentrations than fetal urine in the bladder at the time of delivery. When compared with the urine in the bladder of fetuses delivered at 15 to 20 weeks, fetal urine at term has a lower osmolality and a different amino acid composition which is partially explained by reduced fetal plasma amino acid concentrations in later pregnancy and by alterations in the endogenous renal clearance of some amino acids.
    Type of Medium: Electronic Resource
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